新生儿重症监护病房先天性心脏病婴儿的基因组检测和分子诊断。
Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit.
机构信息
Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, 02115, USA.
Division of Neonatal-Perinatal Medicine, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston and Children's Memorial Hermann Hospital, Houston, TX, 77030, USA.
出版信息
J Perinatol. 2024 Aug;44(8):1196-1202. doi: 10.1038/s41372-024-01935-1. Epub 2024 Mar 18.
OBJECTIVE
To evaluate patterns of genetic testing among infants with CHD at a tertiary care center.
STUDY DESIGN
We conducted a retrospective observational cohort study of infants in the NICU with suspicion of a genetic disorder. 1075 of 7112 infants admitted to BCH had genetic evaluation including 329 with CHD and 746 without CHD. 284 of 525 infants with CHD admitted to CMHH had genetic evaluation. Patterns of testing and diagnoses were compared.
RESULTS
The rate of diagnosis after testing was similar for infants with or without CHD (38% [121/318] vs. 36% [246/676], p = 0.14). In a multiple logistic regression, atrioventricular septal defects were most high associated with genetic diagnosis (odds ratio 29.99, 95% confidence interval 2.69-334.12, p < 0.001).
CONCLUSIONS
Infants with suspicion of a genetic disorder with CHD had similar rates of molecular diagnosis as those without CHD. These results support a role for genetic testing among NICU infants with CHD.
目的
评估三级护理中心患 CHD 的婴儿的基因检测模式。
研究设计
我们对 NICU 中疑似遗传疾病的婴儿进行了回顾性观察队列研究。在入住 BCH 的 7112 名婴儿中，有 1075 名接受了基因评估，其中 329 名患有 CHD，746 名无 CHD。在入住 CMHH 的 525 名患有 CHD 的婴儿中，有 284 名接受了基因评估。比较了检测和诊断的模式。
结果
有或无 CHD 的婴儿的检测后诊断率相似（38% [121/318] 与 36% [246/676]，p=0.14）。在多因素逻辑回归中，房室间隔缺损与基因诊断的关联最高（优势比 29.99，95%置信区间 2.69-334.12，p<0.001）。
结论
怀疑有遗传疾病的 CHD 婴儿与无 CHD 婴儿的分子诊断率相似。这些结果支持对患有 CHD 的 NICU 婴儿进行基因检测。
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